SNP Links for Gene (Select 102724880) - SNP

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Select item 14910340881.

rs1491034088 has merged into rs55969584 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:9166855 (GRCh38)
8:9024365 (GRCh37)
Canonical SPDI:: NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:9166843:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AA=0.45/18 (GENOME_DK)
HGVS:: NC_000008.11:g.9166855_9166874del, NC_000008.11:g.9166856_9166874del, NC_000008.11:g.9166857_9166874del, NC_000008.11:g.9166858_9166874del, NC_000008.11:g.9166859_9166874del, NC_000008.11:g.9166860_9166874del, NC_000008.11:g.9166861_9166874del, NC_000008.11:g.9166862_9166874del, NC_000008.11:g.9166863_9166874del, NC_000008.11:g.9166864_9166874del, NC_000008.11:g.9166865_9166874del, NC_000008.11:g.9166866_9166874del, NC_000008.11:g.9166867_9166874del, NC_000008.11:g.9166868_9166874del, NC_000008.11:g.9166869_9166874del, NC_000008.11:g.9166870_9166874del, NC_000008.11:g.9166871_9166874del, NC_000008.11:g.9166872_9166874del, NC_000008.11:g.9166873_9166874del, NC_000008.11:g.9166874del, NC_000008.11:g.9166874dup, NC_000008.11:g.9166873_9166874dup, NC_000008.11:g.9166872_9166874dup, NC_000008.11:g.9166871_9166874dup, NC_000008.11:g.9166869_9166874dup, NC_000008.11:g.9166868_9166874dup, NC_000008.11:g.9166865_9166874dup, NC_000008.11:g.9166858_9166874dup, NC_000008.10:g.9024365_9024384del, NC_000008.10:g.9024366_9024384del, NC_000008.10:g.9024367_9024384del, NC_000008.10:g.9024368_9024384del, NC_000008.10:g.9024369_9024384del, NC_000008.10:g.9024370_9024384del, NC_000008.10:g.9024371_9024384del, NC_000008.10:g.9024372_9024384del, NC_000008.10:g.9024373_9024384del, NC_000008.10:g.9024374_9024384del, NC_000008.10:g.9024375_9024384del, NC_000008.10:g.9024376_9024384del, NC_000008.10:g.9024377_9024384del, NC_000008.10:g.9024378_9024384del, NC_000008.10:g.9024379_9024384del, NC_000008.10:g.9024380_9024384del, NC_000008.10:g.9024381_9024384del, NC_000008.10:g.9024382_9024384del, NC_000008.10:g.9024383_9024384del, NC_000008.10:g.9024384del, NC_000008.10:g.9024384dup, NC_000008.10:g.9024383_9024384dup, NC_000008.10:g.9024382_9024384dup, NC_000008.10:g.9024381_9024384dup, NC_000008.10:g.9024379_9024384dup, NC_000008.10:g.9024378_9024384dup, NC_000008.10:g.9024375_9024384dup, NC_000008.10:g.9024368_9024384dup, NW_018654717.1:g.4184721_4184740del, NW_018654717.1:g.4184722_4184740del, NW_018654717.1:g.4184723_4184740del, NW_018654717.1:g.4184724_4184740del, NW_018654717.1:g.4184725_4184740del, NW_018654717.1:g.4184726_4184740del, NW_018654717.1:g.4184727_4184740del, NW_018654717.1:g.4184728_4184740del, NW_018654717.1:g.4184729_4184740del, NW_018654717.1:g.4184730_4184740del, NW_018654717.1:g.4184731_4184740del, NW_018654717.1:g.4184732_4184740del, NW_018654717.1:g.4184733_4184740del, NW_018654717.1:g.4184734_4184740del, NW_018654717.1:g.4184735_4184740del, NW_018654717.1:g.4184736_4184740del, NW_018654717.1:g.4184737_4184740del, NW_018654717.1:g.4184738_4184740del, NW_018654717.1:g.4184739_4184740del, NW_018654717.1:g.4184740del, NW_018654717.1:g.4184740dup, NW_018654717.1:g.4184739_4184740dup, NW_018654717.1:g.4184738_4184740dup, NW_018654717.1:g.4184737_4184740dup, NW_018654717.1:g.4184735_4184740dup, NW_018654717.1:g.4184734_4184740dup, NW_018654717.1:g.4184731_4184740dup, NW_018654717.1:g.4184724_4184740dup

Select item 14909851522.

rs1490985152 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAA>- [Show Flanks]
Chromosome:: 8:9161954 (GRCh38)
8:9019464 (GRCh37)
Canonical SPDI:: NC_000008.11:9161953:AAAA:
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000008.11:g.9161954_9161957del, NC_000008.10:g.9019464_9019467del, NW_018654717.1:g.4189623_4189626del

Select item 14908298293.

rs1490829829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9154320 (GRCh38)
8:9011830 (GRCh37)
Canonical SPDI:: NC_000008.11:9154319:A:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.9154320A>G, NC_000008.10:g.9011830A>G, NG_028089.1:g.2323T>C, NW_018654717.1:g.4197260T>C

Select item 14907053934.

rs1490705393 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:9167258 (GRCh38)
8:9024768 (GRCh37)
Canonical SPDI:: NC_000008.11:9167257:G:
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.9167258del, NC_000008.10:g.9024768del, NW_018654717.1:g.4184324del, XR_001745799.2:n.677del, XR_001745799.1:n.703del, XR_002959179.2:n.679del, XR_002959179.1:n.703del

Select item 14906935125.

rs1490693512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:9156707 (GRCh38)
8:9014217 (GRCh37)
Canonical SPDI:: NC_000008.11:9156706:T:C,NC_000008.11:9156706:T:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9156707T>C, NC_000008.11:g.9156707T>G, NC_000008.10:g.9014217T>C, NC_000008.10:g.9014217T>G, NW_018654717.1:g.4194873A>G, NW_018654717.1:g.4194873A>C

Select item 14905012636.

rs1490501263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:9162147 (GRCh38)
8:9019657 (GRCh37)
Canonical SPDI:: NC_000008.11:9162146:G:A,NC_000008.11:9162146:G:C
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9162147G>A, NC_000008.11:g.9162147G>C, NC_000008.10:g.9019657G>A, NC_000008.10:g.9019657G>C, NW_018654717.1:g.4189437C>T, NW_018654717.1:g.4189437C>G

Select item 14904730027.

rs1490473002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9152376 (GRCh38)
8:9009886 (GRCh37)
Canonical SPDI:: NC_000008.11:9152375:G:A
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9152376G>A, NC_000008.10:g.9009886G>A, NG_028089.1:g.4267C>T, NW_018654717.1:g.4199253C>T

Select item 14904346058.

rs1490434605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:9162923 (GRCh38)
8:9020433 (GRCh37)
Canonical SPDI:: NC_000008.11:9162922:A:C
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.9162923A>C, NC_000008.10:g.9020433A>C, NW_018654717.1:g.4188661T>G

Select item 14904083449.

rs1490408344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9160952 (GRCh38)
8:9018462 (GRCh37)
Canonical SPDI:: NC_000008.11:9160951:A:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.9160952A>G, NC_000008.10:g.9018462A>G, NW_018654717.1:g.4190628T>C

Select item 149035368010.

rs1490353680 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149024023611.

rs1490240236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9159883 (GRCh38)
8:9017393 (GRCh37)
Canonical SPDI:: NC_000008.11:9159882:G:A
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.9159883G>A, NC_000008.10:g.9017393G>A, NW_018654717.1:g.4191697C>T

Select item 149014977112.

rs1490149771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:9168387 (GRCh38)
8:9025897 (GRCh37)
Canonical SPDI:: NC_000008.11:9168386:T:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.9168387T>G, NC_000008.10:g.9025897T>G, NW_018654717.1:g.4183195A>C, XR_001745799.2:n.1806T>G, XR_001745799.1:n.1832T>G, XR_002959179.2:n.1808T>G, XR_002959179.1:n.1832T>G, XR_007060807.1:n.1218T>G, XR_007069086.1:n.1220T>G

Select item 148998650013.

rs1489986500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:9152738 (GRCh38)
8:9010248 (GRCh37)
Canonical SPDI:: NC_000008.11:9152737:A:C,NC_000008.11:9152737:A:G
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9152738A>C, NC_000008.11:g.9152738A>G, NC_000008.10:g.9010248A>C, NC_000008.10:g.9010248A>G, NG_028089.1:g.3905T>G, NG_028089.1:g.3905T>C, NW_018654717.1:g.4198891T>G, NW_018654717.1:g.4198891T>C

Select item 148994518214.

rs1489945182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:9163226 (GRCh38)
8:9020736 (GRCh37)
Canonical SPDI:: NC_000008.11:9163225:T:A,NC_000008.11:9163225:T:C
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.9163226T>A, NC_000008.11:g.9163226T>C, NC_000008.10:g.9020736T>A, NC_000008.10:g.9020736T>C, NW_018654717.1:g.4188358A>T, NW_018654717.1:g.4188358A>G

Select item 148976559715.

rs1489765597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:9152818 (GRCh38)
8:9010328 (GRCh37)
Canonical SPDI:: NC_000008.11:9152817:G:A,NC_000008.11:9152817:G:C,NC_000008.11:9152817:G:T
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.9152818G>A, NC_000008.11:g.9152818G>C, NC_000008.11:g.9152818G>T, NC_000008.10:g.9010328G>A, NC_000008.10:g.9010328G>C, NC_000008.10:g.9010328G>T, NG_028089.1:g.3825C>T, NG_028089.1:g.3825C>G, NG_028089.1:g.3825C>A, NW_018654717.1:g.4198811C>T, NW_018654717.1:g.4198811C>G, NW_018654717.1:g.4198811C>A

Select item 148975234816.

rs1489752348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9164222 (GRCh38)
8:9021732 (GRCh37)
Canonical SPDI:: NC_000008.11:9164221:A:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.9164222A>G, NC_000008.10:g.9021732A>G, NW_018654717.1:g.4187362T>C

Select item 148945501017.

rs1489455010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:9154518 (GRCh38)
8:9012028 (GRCh37)
Canonical SPDI:: NC_000008.11:9154517:T:C
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.9154518T>C, NC_000008.10:g.9012028T>C, NG_028089.1:g.2125A>G, NW_018654717.1:g.4197062A>G

Select item 148945199218.

rs1489451992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:9155022 (GRCh38)
8:9012532 (GRCh37)
Canonical SPDI:: NC_000008.11:9155021:A:G
Gene:: PPP1R3B-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000039/5 (GnomAD_exomes)
HGVS:: NC_000008.11:g.9155022A>G, NC_000008.10:g.9012532A>G, NG_028089.1:g.1621T>C, NW_018654717.1:g.4196558T>C, XR_948931.3:n.249A>G, XR_948931.2:n.275A>G, XR_948931.1:n.242A>G, XR_001745799.2:n.249A>G, XR_001745799.1:n.275A>G, XR_002959179.2:n.251A>G, XR_002959179.1:n.275A>G, XR_002959180.2:n.251A>G, XR_002959180.1:n.275A>G, XR_002959181.2:n.389A>G, XR_002959181.1:n.275A>G, XR_007060808.1:n.249A>G, XR_007060807.1:n.249A>G, XR_007060809.1:n.249A>G, XR_007069086.1:n.251A>G, XR_007069087.1:n.389A>G

Select item 148934019219.

rs1489340192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:9152526 (GRCh38)
8:9010036 (GRCh37)
Canonical SPDI:: NC_000008.11:9152525:G:A
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.9152526G>A, NC_000008.10:g.9010036G>A, NG_028089.1:g.4117C>T, NW_018654717.1:g.4199103C>T

Select item 148904334720.

rs1489043347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:9150224 (GRCh38)
8:9007734 (GRCh37)
Canonical SPDI:: NC_000008.11:9150223:C:T
Gene:: PPP1R3B (Varview), PPP1R3B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.9150224C>T, NC_000008.10:g.9007734C>T, NG_028089.1:g.6419G>A, NW_018654717.1:g.4201405G>A

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